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rs864321635

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864321635(C;T)
Make rs864321635(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position51139062
GeneSALL1
is asnp
is mentioned by
dbSNPrs864321635
ebirs864321635
HLIrs864321635
Exacrs864321635
Varsomers864321635
Maprs864321635
PheGenIrs864321635
hapmaprs864321635
1000 genomesrs864321635
hgdprs864321635
ensemblrs864321635
gopubmedrs864321635
geneviewrs864321635
scholarrs864321635
googlers864321635
pharmgkbrs864321635
gwascentralrs864321635
openSNPrs864321635
23andMers864321635
23andMe allrs864321635
SNP Nexus

SNPshotrs864321635
SNPdbers864321635
MSV3drs864321635
GWAS Ctlgrs864321635
Max Magnitude0
ClinVar
Risk rs864321635(T;T)
Alt rs864321635(T;T)
Reference rs864321635(C;C)
Significance Pathogenic
Disease Townes syndrome
Variation info
Gene SALL1
CLNDBN Townes syndrome
Reversed 1
HGVS NC_000016.9:g.51172973G>A
CLNSRC
CLNACC RCV000203506.1,